Two new molecular bases for the Dombrock null phenotype

Research output: Contribution to journalArticle

Abstract

Red blood cells (RBCs) with the Do(null) phenotype lack all antigens in the Dombrock blood group system, i.e. Do(a), Do(b), Gy(a), Hy and Jo(a). Sequence analysis of DNA from one proband with the Do(null) phenotype revealed a single nucleotide mutation of t to c in the donor splice site of DO (IVS1 + 2t > c), with outsplicing of exon 2. Analysis of a second proband revealed a homozygous nonsense mutation 442 C > T in exon 2 predicting a premature stop codon (Gln148 Stop). The molecular bases described in these two probands provide an explanation for the lack of Do glycoprotein on their RBCs.

Details

Authors
  • Maria Rios
  • Jill Storry
  • Kim Hue-Roye
  • Amy Chung
  • Marion E Reid
External organisations
  • External Organization - Unknown
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Hematology
Original languageEnglish
Pages (from-to)765-767
JournalBritish Journal of Haematology
Volume117
Issue number3
Publication statusPublished - 2002
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes